Nature Neuroscience7, 1187 - 1189 (2004)
Published online: 24 October 2004; | doi:10.1038/nn1336
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay
Giles S H Yeo1, 3, Chiao-Chien Connie Hung1, 3, Justin Rochford1, Julia Keogh1, Juliette Gray1, Shoba Sivaramakrishnan2, Stephen O'Rahilly1
& I Sadaf Farooqi1
1
University Department of Clinical Biochemistry, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge CB2 2XY, UK.
2
Castleford and Normanton District Hospital, Castleford, Yorkshire WF10 5LT, UK.
An 8-year-old male with a complex developmental syndrome and severe obesity was heterozygous for a de novo missense mutation resulting in a Y722C substitution in the neurotrophin receptor TrkB. This mutation markedly impaired receptor autophosphorylation and signaling to MAP kinase. Mutation of NTRK2, which encodes TrkB, seems to result in a unique human syndrome of hyperphagic obesity. The associated impairment in memory, learning and nociception seen in the proband reflects the crucial role of TrkB in the human nervous system.
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